If you’ve heard people talk about “breast cancer genes,” they were probably referring to BRCA, but what they said was only partially true. Everyone has the BRCA genes (breast cancer), and if they function properly, they protect you. “We all have two copies of the BRCA1 and 2 genes and we want them to work properly,” said Chrissy Spears, M.S., a certified genetic counselor at Ohio State University’s Comprehensive Cancer Center and member of HealthyWomen’s Women’s Health Advisory Council.
It’s not the genes themselves, but certain mutations (changes) in BRCA1, BRCA2, and other genes that can increase the risk of developing breast cancer and other types. Normal BRCA1 and BRCA2 genes produce proteins that help repair faulty DNA. Sometimes called “tumor suppressor genes,” they prevent cancer when functioning properly. However, mutations in BRCA1 or BRCA2 can prevent the protein from repairing DNA, increasing the likelihood of rapid cell division and growth, potentially leading to cancer. This is why individuals with harmful BRCA1 or BRCA2 mutations have a higher risk of developing certain cancers, including breast, ovarian, and prostate cancer.
The good news? There are tests that can indicate if you have a BRCA mutation. Understanding BRCA testing can be helpful in deciding with your healthcare provider if getting tested is right for you. Timely BRCA testing, especially after a diagnosis, could be a life-changing decision.
BRCA genetic testing looks for mutations in your BRCA1 and BRCA2 genes that significantly increase the risk of: Breast cancer (in women and men), Ovarian cancer, Pancreatic cancer, Melanoma, Prostate cancer. Genetic testing also aims to identify mutations in genes other than BRCA1 and BRCA2, with over 1000 known BRCA mutations. Testing can be done through blood or saliva samples with no difference in accuracy. Speak with your doctor or genetic counselor to request an FDA-approved test. Results are typically available in about two weeks.
Who should get BRCA testing? BRCA testing is recommended for individuals with certain risk factors, including personal history of breast cancer (especially before age 50), personal or family history of multiple cancer diagnoses, or specific types of cancer. If you have one or more of these risk factors, consider discussing BRCA testing with your healthcare provider. Genetic testing can provide valuable information about your cancer risk and help guide informed medical decisions.
Some BRCA mutations are hereditary and can be passed from parents to children, increasing the risk of certain cancers. If you have a family history of breast, ovarian, or prostate cancer, genetic testing can help assess your cancer risk and inform medical decisions. “Knowledge is power,” said Spears. Understanding BRCA testing is important for both women and men, as they can also carry BRCA mutations.
Should you get BRCA testing after a breast cancer diagnosis? Individual decisions about BRCA testing post-diagnosis should be made with a woman’s healthcare team. Genetic testing may be beneficial for women with certain types of breast cancer, early-onset diagnoses, or specific family histories. Recent guidelines recommend BRCA mutation testing for certain patients with breast cancer diagnoses.
Does BRCA status affect treatment decisions? Discovering BRCA mutations early can impact breast cancer treatment decisions, as genetic testing can inform targeted therapies and other preventive measures. Genetic testing results can help healthcare providers determine the most effective treatment options. It’s important to check with insurance providers about coverage for BRCA testing, as many insurance plans may cover the cost if recommended by a doctor.
Are home genetic testing kits effective? While there are home genetic testing kits available, it’s best to consult with a healthcare provider about BRCA testing. Home tests may not detect all BRCA mutations and results can be confusing without expert interpretation. Visit beBRCAware.com for information on how genetic testing can provide valuable insights into cancer risk and guide treatment decisions post-diagnosis. This educational resource was created with support from AstraZeneca and beBRCAware.com.
